The PGD Laboratory, Saad Specialist Hospital, Al-Khobar, Saudi Arabia.
Am J Med Genet A. 2010 Jun;152A(6):1555-60. doi: 10.1002/ajmg.a.33400.
We report on two siblings (half brothers on the paternal side) with a syndrome consisting of delayed development, cardiac anomalies, chest deformity, hip rotation, metatarsus adductus, genital hypoplasia, dysmorphic face, depressed nasal bridge, mental retardation, and speech delay. All metaphases examined showed a normal karyotype in the patients, their father, and both mothers. High-resolution array CGH examination revealed a 16q (6 Mb) duplication dup(16)(16q23.3 --> 16qter) and a 5p (0.97 Mb) terminal deletion del(5)(p15.32 --> pter) in both affected boys but not their healthy siblings or parents. Interphase fluorescence in situ hybridization (FISH) confirmed both the 16q duplicated region and the 5p terminal deletion. Clinical abnormalities in the patients included thin upper lip, clinodactyly, and foot deformity, which were reported previously with duplications in 16q23.3. Pectus excavatum, hip rotation, metatarsus adductus, umbilical hernia, brachycephaly, and esotropia were not reported previously in chromosome 16q duplications but may be features that occur intermittently. The 5p deleted region has been associated previously only with speech delay, which was present in both patients. These patients display certain phenotypic characteristics not reported previously in 16q duplication and confirm 5p terminal deletion as an important chromosome anomaly for speech delay.
我们报告了两例同胞兄妹（同父异母），他们的综合征包括发育迟缓、心脏畸形、胸廓畸形、髋关节旋转、内收足、生殖器发育不全、颜面畸形、鼻梁凹陷、智力障碍和言语迟缓。所有患者、其父亲和两位母亲的中期检查均显示正常核型。高分辨率阵列 CGH 检查显示，两名受影响男孩均存在 16q（6Mb）重复dup(16)(16q23.3-- > 16qter)和 5p（0.97Mb）末端缺失del(5)(p15.32-- > pter)，但他们的健康兄弟姐妹和父母均未出现上述情况。间期荧光原位杂交（FISH）证实了 16q 重复区域和 5p 末端缺失。患者的临床异常包括薄上唇、指内弯和足畸形，这些异常以前曾在 16q23.3 重复中报道过。漏斗胸、髋关节旋转、内收足、脐疝、短头畸形和内斜视以前在 16q 重复中未报道过，但可能是间歇性出现的特征。5p 缺失区域以前仅与言语迟缓有关，这在两名患者中均存在。这些患者表现出一些以前在 16q 重复中未报道过的特定表型特征，并证实 5p 末端缺失是言语迟缓的一个重要染色体异常。
